Variant report

Variant	rs543556122
Chromosome Location	chr7:7802813-7802814
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7799254..7806715-chr7:8006933..8010615,16	MCF-7	breast:
2	chr7:7676930..7679384-chr7:7801269..7803491,2	K562	blood:
3	chr7:7801447..7806278-chr7:7806624..7810119,5	K562	blood:
4	chr7:7797784..7800266-chr7:7801880..7803874,2	K562	blood:
5	chr7:7799672..7804877-chr7:8006535..8011034,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106399	Chromatin interaction
ENSG00000233108	Chromatin interaction
ENSG00000106415	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv887478	chr7:7670718-7917360	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv887480	chr7:7681131-7917360	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv887485	chr7:7692483-7917360	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv1026564	chr7:7734846-7897847	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv887489	chr7:7770203-7913311	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1027770	chr7:7797431-7957507	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv538722	chr7:7797431-7957507	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv887490	chr7:7801684-7908970	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7801400-7804200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:7802200-7809400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:7802400-7803200	Enhancers	Primary B cells from peripheral blood	blood
4	chr7:7802400-7803600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:7802400-7803800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:7802400-7804200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:7802400-7804200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr7:7802400-7804200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:7802400-7804200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:7802400-7805000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:7802400-7805400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:7802400-7805400	Enhancers	Fetal Thymus	thymus
13	chr7:7802400-7805800	Enhancers	Primary T cells from cord blood	blood
14	chr7:7802400-7805800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr7:7802400-7806200	Enhancers	Stomach Mucosa	stomach
16	chr7:7802400-7807200	Weak transcription	Fetal Stomach	stomach
17	chr7:7802400-7808000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:7802400-7808000	Weak transcription	Psoas Muscle	Psoas
19	chr7:7802400-7809200	Weak transcription	Gastric	stomach
20	chr7:7802400-7812000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:7802400-7812000	Weak transcription	Brain Substantia Nigra	brain
22	chr7:7802400-7812200	Weak transcription	Small Intestine	intestine
23	chr7:7802400-7829800	Weak transcription	Left Ventricle	heart
24	chr7:7802400-7841400	Weak transcription	Ovary	ovary
25	chr7:7802600-7803000	Weak transcription	Fetal Intestine Small	intestine
26	chr7:7802600-7803000	Weak transcription	Thymus	Thymus
27	chr7:7802600-7803200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:7802600-7803200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:7802600-7803200	Enhancers	Fetal Intestine Large	intestine
30	chr7:7802600-7803200	Enhancers	Dnd41	blood
31	chr7:7802600-7803600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr7:7802600-7803600	Weak transcription	Fetal Heart	heart
33	chr7:7802600-7803600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr7:7802600-7803600	Weak transcription	A549	lung
35	chr7:7802600-7803800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:7802600-7803800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr7:7802600-7804200	Weak transcription	Primary B cells from cord blood	blood
38	chr7:7802600-7804200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:7802600-7804200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr7:7802600-7804200	Weak transcription	Colon Smooth Muscle	Colon
41	chr7:7802600-7804400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:7802600-7804400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:7802600-7804400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr7:7802600-7804400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr7:7802600-7804400	Weak transcription	HMEC	breast
46	chr7:7802600-7804800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:7802600-7804800	Weak transcription	GM12878-XiMat	blood
48	chr7:7802600-7804800	Weak transcription	NHEK	skin
49	chr7:7802600-7805000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr7:7802600-7805200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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